Tg(Myh6-NEBL*G202R)#Jato
Transgene Detail

Summary

• Symbol: Tg(Myh6-NEBL*G202R)#Jato
• Name: transgene insertion, Jeffrey A Towbin
• MGI ID: MGI:5907159
• Transgene: Tg(Myh6-NEBL*G202R)#Jato Location: unknown
• Alliance: Tg(Myh6-NEBL*G202R)#Jato page

Transgene origin

• Strain of Origin: Not Specified

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(Myh6-NEBL*G202R)#Jato expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  NEBL (10529)

  Nebl	(MGI:1921353)

• Mutation details: The murine alpha-myosin heavy chain promotor drives the cardiac-specific expression of the full-length 3.1 kb human nebulette cDNA containing the c.604G>A substitution in exon 7 resulting in a glycine to arginine change at codon 202 (G202R). This is one variant identified in patients with dilated cardiomyopathy and endocardial fibroelastosis. The pound symbol (#) is used when line is not specified and/or lines are pooled. (J:242962)

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available

References

• Original: J:242962 Purevjav E, et al., Nebulette mutations are associated with dilated cardiomyopathy and endocardial fibroelastosis. J Am Coll Cardiol. 2010 Oct 26;56(18):1493-502
• All: 3 reference(s)